ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)

dbSNP: rs764191178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644187 SCV000765877 likely benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001771884 SCV002001278 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000644187 SCV002039564 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397241 SCV002708068 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-27 criteria provided, single submitter clinical testing The p.P542L variant (also known as c.1625C>T), located in coding exon 15 of the TSC2 gene, results from a C to T substitution at nucleotide position 1625. The proline at codon 542 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459537 SCV004206895 uncertain significance Isolated focal cortical dysplasia type II 2023-06-26 criteria provided, single submitter clinical testing

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